{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,30]],"date-time":"2026-01-30T04:03:42Z","timestamp":1769745822500,"version":"3.49.0"},"reference-count":16,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2016,7,16]],"date-time":"2016-07-16T00:00:00Z","timestamp":1468627200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81472867"],"award-info":[{"award-number":["81472867"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004440","name":"Wellcome Trust","doi-asserted-by":"publisher","award":["098439\/Z\/12\/Z"],"award-info":[{"award-number":["098439\/Z\/12\/Z"]}],"id":[{"id":"10.13039\/100004440","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Acad Dermatol Venereol"],"published-print":{"date-parts":[[2016,9]]},"abstract":"Abstract<\/jats:title>Background<\/jats:title>Porokeratosis (PK<\/jats:styled-content>, MIM<\/jats:styled-content> 175800) is a chronic autosomal dominant cutaneous keratinization disorder, which has a wide variety of clinical manifestations.<\/jats:p><\/jats:sec>Objectives<\/jats:title>We analysed the molecular basis of 10 families and 12 sporadic cases with different subtypes of porokeratosis in the Chinese population.<\/jats:p><\/jats:sec>Methods<\/jats:title>Genomic DNA<\/jats:styled-content> was extracted from peripheral blood samples. Mutation screening was performed by direct sequencing of exons and flanking intron\u2013exon boundaries for the entire coding region of four mevalonate pathway genes and SLC<\/jats:styled-content>17A9<\/jats:italic> gene.<\/jats:p><\/jats:sec>Results<\/jats:title>We detected three novel mutations and seven previously described mutations by direct sequence analysis of the PCR<\/jats:styled-content> products. Mutations p.Phe249Ser and p.Asn292Ser in mevalonate decarboxylase (MVD<\/jats:styled-content><\/jats:italic>) were the most common mutations in this PK<\/jats:styled-content> cohort; their presence was 27.3% and 13.6% respectively.<\/jats:p><\/jats:sec>Conclusions<\/jats:title>This study extended the mutation spectrum of PK<\/jats:styled-content> in the Chinese Han population and provided further evidence for the genetic basis of PK<\/jats:styled-content>. We first identified MVD<\/jats:styled-content><\/jats:italic> simultaneously responsible for porokeratosis palmaris et plantaris disseminate development and confirmed the genotype\u2013phenotype correlations.<\/jats:p><\/jats:sec>","DOI":"10.1111\/jdv.13653","type":"journal-article","created":{"date-parts":[[2016,7,16]],"date-time":"2016-07-16T09:12:47Z","timestamp":1468660367000},"page":"1512-1517","source":"Crossref","is-referenced-by-count":29,"title":["Mutations in the mevalonate pathway genes in Chinese patients with porokeratosis"],"prefix":"10.1111","volume":"30","author":[{"given":"M.","family":"Li","sequence":"first","affiliation":[{"name":"Department of Dermatology Xinhua Hospital, Shanghai Jiaotong University School of Medicine Shanghai China"},{"name":"Centre for Dermatology and Genetic Medicine College of Life Sciences and Medicine, Dentistry and Nursing, University of Dundee Dundee UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Z.","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Dermatology Henan Provincial People's Hospital Zhengzhou Henan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Dermatology Henan Provincial People's Hospital Zhengzhou Henan China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Ni","sequence":"additional","affiliation":[{"name":"Department of Dermatology Xinhua Hospital, Shanghai Jiaotong University School of Medicine Shanghai China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Z.","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Dermatology Fengxian Institute of Dermatosis Prevention Shanghai 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